Varaico: Literature-Extracted Genetic Variants

Gene:MYH3
Variant:p.K527_P528Splc
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MYH3

NM_002470.4:p.K527_P528Splc

Associated Papers

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.

Morali B et al.

Clinical Genetics, 2024

Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).

He QB et al.

Molecular Genetics & Genomic Medicine, 2024

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.

Zhao S et al.

Npj Genomic Medicine, 2022

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Cameron-Christie SR et al.

American Journal of Human Genetics, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."